ATP13A2 ATPase type 13A2 [Homo sapiens (human)]
| Gene Symbol | ATP13A2 |
| Entrez Gene ID | 23400 |
| Full Name | ATPase type 13A2 |
| Synonyms | FLJ26510, HSA9947, KRPPD, PARK9 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
1 1p36 |
| Summary | This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene. |
| Disorder | MIM: 610513 Parkinson disease 9, 606693 (3) |
| mRNA | NM_022089, 213972617 |
| Protein | NP_071372, 13435129 |
| Product | probable cation-transporting ATPase 13A2 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001141973, 213972618 |
| Protein | NP_001135445, 213972619 |
| Product | probable cation-transporting ATPase 13A2 isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001141974, 213972620 |
| Protein | NP_001135446, 213972621 |
| Product | probable cation-transporting ATPase 13A2 isoform 3 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | ATP13A2 | NP_071372.1 |
| Pan troglodytes (chimpanzee) | ATP13A2 | XP_513111.2 |
| Bos taurus (cattle) | ATP13A2 | XP_587995.3 |
| Mus musculus (house mouse) | Atp13a2 | NP_083373.1 |
| Rattus norvegicus (Norway rat) | Atp13a2 | XP_342963.3 |
| Danio rerio (zebrafish) | atp13a2 | NP_001073506.1 |
| ID | Name | Evidence |
| GO:0006754 | ATP biosynthetic process | IEA |
| GO:0006812 | cation transport | IEA |
Component
| ID | Name | Evidence |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0005524 | ATP binding | IEA |
| GO:0015662 | ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism | IEA |
| GO:0016787 | hydrolase activity | IEA |
| GO:0016887 | ATPase activity | IEA |
| GO:0046872 | metal ion binding | IEA |
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